Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China

Objective: To explore the relationship between genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), the central enzymes in folate metabolism that affects DNA methylation and synthesis, and the risk of Down syndrome in China. Methods: Genomic DNA was isolated from the peripheral lymphocytes of 64 mothers of children with Down syndrome and 70 age matched control subjects. Polymerase chain reaction and restriction fragment length polymorphism were used to examine the polymorphisms of MTHFR 677C→T, MTRR 66A→G and the relationship between these genotypes and the risk of Down syndrome was analyzed. Results: The results show that the MTHFR 677C→T polymorphism is more prevalent among mothers of children with Down syndrome than among control mothers, with an odds ratio of 3.78 (95% confidence interval (CI), 1.78～8.47). In addition, the homozygous MTRR 66A→G polymorphism was independently associated with a 5.2-fold increase in estimated risk (95% CI, 1.90～14.22). The combined presence of both polymorphisms was associated with a greater risk of Down syndrome than the presence of either alone, with an odds ratio of 6.0 (95% CI, 2.058～17.496).The two polymorphisms appear to act without a multiplicative interaction. Conclusion: MTHFR and MTRR gene mutation alleles are related to Down syndrome, and CT, TT and GG gene mutation types increase the risk of Down syndrome.     

天麻钩藤饮对高血压病肝阳上亢证患者超氧化物歧化酶的影响

目的：观察天麻钩藤饮对高血压病（肝阳上亢型）患者血浆超氧化物歧化酶（SOD）的影响。方法：采用随机对照方法，观察天麻钩藤饮组（30例）和对照组（30例）治疗前后血压水平及血浆超氧化物歧化酶的变化。结果：两组治疗后血压明显降低，超氧化物歧化酶明显增高（P〈0．01，P〈0．05），组间比较无显著差异（P〉0．05）。结论：天麻钩藤饮能显著升高高血压病患者血浆超氧化物歧化酶的水平。     

Methylenetetrahydrofolate reductase C677T polymorphism predicts response and time to progression to gemcitabine-based chemotherapy for advanced non-small cell lung cancer in a Chinese Han population

Objective:The aim of this study was to evaluate the association between the methylenetetrahydrofolate reductase(MTHFR) C677T excision repair cross-complementation group 1(ERCC1) genetic polymorphisms and the clinical efficacy of gemcitabine-based chemotherapy in advanced non-small cell lung cancer(NSCLC).Methods:A total of 135 chemonaive patients with unresectable advanced NSCLC were treated with gemcitabine/platinum regimens.The polymorphisms of MTHFR C677T,ERCC1 C8092A,and ERCC1 C118T were genotyped using the TaqMan methods.Results:The overall response rate was 28.9%.Patients with MTHFR CC genotype had a higher rate of objective response than patients with variant genotype(TT or CT)(41.2% versus 19.1%,P=0.01).Median time to progression(TTP) of patients with MTHFR CC genotype was longer than that of patients with variant genotype(7.6 months versus 5.0 months,P=0.003).No significant associations were obtained between ERCC1 C118T and C8092A polymorphisms and both response and survival.Conclusions:Our data suggest the value of MTHFR C677T polymorphism as a possible predictive marker of response and TTP in advanced NSCLC patients treated with gemcitabine/platinum.     

贝尼地平治疗原发性高血压病40例疗效观察

目的旨在观察新型钙离子拮抗剂贝尼地平治疗原发性高血压病的疗效,为临床治疗的选择提供依据。方法将2005年8月～2006年10月中符合高血压病诊断标准的轻中度原发性高血压病患者40例采用自身前后对照临床药物治疗试验,停用其他降压药物及可能影响血压的药物,观察贝尼地平治疗6周后对高血压病患者血压的疗效,同时观察患者心率及肝、肾功能、血糖、血脂、血尿酸和心电图变化。结果经贝尼地平治疗6周后患者舒张压和收缩压均有显著下降,治疗前后心率及其他相关性检查无明显变化。结论贝尼地平治疗中轻度原发性高血压病的降压作用确切、平稳、持续且安全性好。     

帕金森病大鼠模型的骨髓间充质干细胞移植疗效的磁共振波谱探讨

目的利用1.5T质子磁共振波谱（^1H-MRS）监测活体帕金森病大鼠模型骨髓间充质干细胞（mesenchymal stem cells,MSCs）移植治疗前后纹状体区的神经代谢变化,以探讨1．5T磁共振波谱分析在评价MSCs移植术疗效中的应用价值。方法30只正常大鼠,以6-羟基多巴胺（6-OHDA）单侧（右侧）损毁制备偏侧帕金森病模型。在活体状态下,分别于造模后3周、MSEs移植后4周及8周应用Philips1．5T临床型磁共振仪扫描,对双侧纹状体区进行^1H—MRS采集,分析该区N-乙酰天门冬氨酸／肌酸（NAA／Cr）、胆碱／肌酸（Cho／Cr）比值变化,同时对大鼠进行行为学检测。利用黑质酪氨酸羟化酶免疫组织化学染色对黑质致密部（SNc）神经元进行定量分析。结果MSCs移植后8周组（C组）大鼠损毁侧（右侧）NAA／Cr比值与未处理组（A组）和MSCs移植后4周组（B组）相比明显升高（P〈0．05）;B,C组损毁侧Cho／Cr比值较A组明显降低（P〈0．05）,且分别明显低于其对侧（P均〈0．05）。B,C组旋转圈数分别较A组低（P均〈0．05）正组旋转圈数较B组显著降低（p〈0．05）。三组损毁侧SNCTH阳性细胞生存率无显著差异（P均〉0．05）。结论1．5T磁共振波谱可以作为一种活体无创性检测方法,对帕金森病大鼠模型纹状体区MSCs细胞移植疗效进行动态监测而作出有价值的评价。     

超声对高血压病患者颈动脉声像图的分析

目的探讨各级高血压病与颈动脉硬化之间的关系。方法对558例高血压病患者的颈动脉内膜中层厚度（IMT）、斑块发生率进行检查分析,并与209例健康成人对照。结果各级高血压患者颈动脉IMT与对照组相比均有明显增加;各级高血压病患者颈动脉IMT之间进行比较亦显示出显著性差异;颈动脉IMT随高血压分级增加而逐渐增厚。结论血压增高与高血压病患者颈动脉变化密切相关,颈动脉超声检测对于防治高血压及其并发症具有重要意义。     

依那普利对充血性心力衰竭患者胰岛素抵抗的影响

目的观察慢性充血性心力衰竭（CHF）患者的血胰岛素和糖代谢变化,并探讨依那普利对CHF患者胰岛素敏感性的影响。方法CHF患者69例,依那普利（n=37）（第一周10mg,1次／d,后三周20mg,1次／d）和地高辛（n=32）（第一周0．25mg,1次／d,后三周0．125mg,1次／d）,治疗前和治疗4周后检测空腹血糖（FPG）、空腹血清胰岛素（FINS）和空腹血清C肽（CP）水平,并计算出FPG／FINS比值、胰岛素敏感性指数IAI值[IAI=－ln（FPG×FINS）]作为机体胰岛素敏感性评价指标,分别比较两组患者治疗前后的胰岛素敏感性变化。结果治疗4周后,依那普利组CHF患者的胰岛素敏感性显著增加,而地高辛组患者胰岛素敏感性无显著变化。结论依那普利有改善CHF患者IR的作用。     

Long-term high fructose and saturated fat diet affects plasma fatty acid profile in rats

As the consumption of fructose and saturated fatty acids (FAs) has greatly increased in western diets and is linked with an increased risk of metabolic syndrome, the aim of this study was to investigate the effects of a moderate (10 weeks) and a prolonged (30 weeks) high fructose and saturated fatty acid (HFS) diet on plasma FA composition in rats. The effects of a few weeks of HFS diet had already been described, but in this paper we tried to establish whether these effects persist or if they are modified after 10 or 30 weeks. We hypothesized that the plasma FA profile would be altered between 10 and 30 weeks of the HFS diet. Rats fed with either the HFS or a standard diet were tested after 10 weeks and again after 30 weeks. After 10 weeks of feeding, HFS-fed rats developed the metabolic syndrome, as manifested by an increase in fasting insulinemia, total cholesterol and triglyceride levels, as well as by impaired glucose tolerance. Furthermore, the plasma FA profile of the HFS group showed higher proportions of monounsaturated FAs like palmitoleic acid [16:1(n-7)] and oleic acid [18:1(n-9)], whereas the proportions of some polyunsaturated n-6 FAs, such as linoleic acid [18:2(n-6)] and arachidonic acid [20:4(n-6)], were lower than those in the control group. After 30 weeks of the HFS diet, we observed changes mainly in the levels of 16:1(n-7) (decreased) and 20:4(n-6) (increased). Together, our results suggest that an HFS diet could lead to an adaptive response of the plasma FA profile over time, in association with the development of the metabolic syndrome.     

Elevated high sensitive C-reactive protein and apelin levels after percutaneous coronary intervention and drug-eluting stent implantation

Objective:Percutaneous coronary intervention(PCI) triggers an acute inflammatory response,while sirolimus is known to have anti-inflammatory properties;the inflammatory system response to PCI after sirolimus-eluting stent placement remains unclear.The purpose of this study is to determine the changes in high sensitive C-reactive protein(hs-CRP) and apelin after PCI procedure and drug-eluting stent implantation in patients with and without reduced left ventricular systolic function.Methods:Forty-eight consecutive patients undergoing PCI at the Beijing Anzhen Hospital between July and September 2006 were recruited.Sirolimus-eluting stents were employed in all patients.Blood samples were drawn immediately before and 24 h after the procedure.Plasma hs-CRP and apelin levels were determined by enzyme immunoassay.Results:Paired t-test revealed a significant increase in both hs-CRP and apelin post-procedure(P=0.006 and P0.0001,respectively).Patients with reduced left ventricular ejection fraction(LVEF) had significantly lower baseline apelin levels compared to those with normal ventricular function [(46.8±10.8) vs.(72.0±8.4) pg/ml,P0.001].However,apelin increased to a level similar to the level of those with normal left ventricular systolic function 24 h after the PCI procedure [(86.7±11.6) vs.(85.1±6.1) pg/ml,P=0.72].Conclusions:hs-CRP and apelin levels increased after PCI and sirolimus-eluting stent implantation.Patients with impaired left ventricular systolic function had significantly lower baseline apelin levels,which increased significantly after PCI.     

血管内皮生长因子936~*T/C基因多态性与胃癌的关系

研究血管内皮生长因子(VEGF)936*T/C基因多态性与胃癌之间的关系,了解该基因多态性对胃癌生成及发展的影响。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测胃癌患者和健康者外周血的VEGF936*T/C基因型。结果,胃癌患者外周血中VEGF936*T/C基因型或等位基因与健康者相比无差异(精确概率法计算基因型P=0.226;卡方检验等位基因x2=2.934,P=0.087)。Ⅲ、Ⅳ期病理分期患者C/C基因型和C等位基因比例(66.7%和82.0%)明显大于Ⅰ、Ⅱ期(12.9%和1.2%),两者差异有统计学意义(基因型:x2=14.215,P=0.000;等位基因:x2=28.430,P=0.000)。结果表明,VEGF936*C/C基因多态性与胃癌的生成无关,而与胃癌的进展相关。     

血清胱抑素C对高血压早期肾损伤诊断价值的研究

目的探讨血清胱抑素C（Cystainc）水平在原发性高血压早期肾损伤临床诊断中的价值。方法高血压病1。2级患者共41例作为观察组,同时选择41例健康体检者作为对照组,分别检测两组治疗前后Cystain C、尿微量白蛋白（mAlb）、血清肌酐（Scr）、尿素氮（BUN）、内生肌酐清除率（Ccr）等。结果观察组与对照组间Cystain C、24hmAlb、Ccr有显著性差异（P〈0．01）、Scr差异无显著性（P〉0．05）;结论血清Cystain C的浓度比BUN、Scr浓度更能够反映肾小球滤过功能的损害,是早期诊断肾小球滤过功能受损的敏感指标之一。     

Infant Crying Levels Elicit Divergent Testosterone Response in Men

SYNOPSIS

Objective. Lower baseline testosterone (T) among men is generally associated with more sympathetic and nurturant responses to infant stimuli. The effect of exposure to infant crying on men’s levels of T, however, is not well understood. The present study aimed to measure men’s T responses to high and low levels of infant crying. Design. Changes in fathers’ (n = 18) and non-fathers’ (n = 28) salivary T levels from baseline were measured in response to caring for an infant simulator programmed to cry often (high-demand condition) or infrequently (low-demand condition) during a 20-min caregiving simulation. Results. Men exposed to low-demand conditions exhibited significant T reductions from baseline, whereas men in high-demand conditions exhibited increases in T. Compared to men who displayed decreases in T following the caregiving simulation, men who displayed increases in T provided less sensitive care. Conclusions. Results suggest a potential role of high levels of crying in provoking physiological reactions among men that may set the stage for hostile or aggressive responses. More research is needed to illuminate contextual factors that contribute to men’s variable responses to infant crying.     

三七总皂苷与氯吡格雷联合应用对高脂血症大鼠血液流变学的影响

目的:研究三七总皂苷联合氯吡格雷对高血脂症血液流变学的作用。方法:大鼠随机分为5组:正常对照组、模型组、三七总皂苷组、氯吡格雷组、三七总皂苷组联合氯吡格雷组(PNSBGL)。除正常对照组外,其余各组喂饲高脂饲料,每日1次,连续给8周;自制模之日起,治疗组分别给予三七总皂苷、氯吡格雷、三七总皂苷+氯吡格雷治疗。8周后采血,测定各组小鼠全血粘度、血小板功能和血脂水平。结果:与模型组比较,三七总皂苷、PNSBGL治疗组血粘度、血小板功能、血脂含量、纤维蛋白原含量、红细胞压积呈现显著性降低(P0.05,P0.01或P0.001),氯吡格雷组血粘度、血小板功能、红细胞压积呈现显著性降低(P0.01或P0.001);与三七总皂苷组比较,PNSBGL治疗组血粘度、血小板功能、红细胞压积呈现显著性降低(P0.05或P0.01);与氯吡格雷组比较,PNSBGL治疗组血粘度、血小板功能、血脂含量、纤维蛋白原含量、红细胞压积呈现显著性降低(P0.05,P0.01或P0.001)。结论:三七总皂苷与氯吡格雷联合应用对高脂血症大鼠血液流变学改变具有协同改善作用。     

Association of matrix metalloproteinase-9 C1562T polymorphism and coronary artery disease: a meta-analysis简

Objective

Many investigations have studied the associations between matrix metalloproteinase-9 (MMP-9) C1562T polymorphisms and coronary artery disease (CAD). However, the conclusions of these studies were inconsistent. Therefore, this study was aimed at clarifying the association between MMP-9 C1562T polymorphisms and CAD in a large-scale meta-analysis.

Methods

The PubMed and Embase databases were retrieved to collect all publications on the association between MMP-9 C1562T polymorphisms and CAD. Then the odd ratios (ORs) and 95% confidence intervals (95% CIs) for C1562T TT+TC versus CC genotype between CAD and the control groups were evaluated. Subgroup analysis was also performed according to different races. The meta-analysis was performed by Stata 10.0.

Results

Sixteen case-control studies were included in our meta-analysis, involving 11 032 CAD patients and 4628 non-CAD controls. Compared with C allele carriers, East Asian T allele carriers TT+TC had a significantly higher risk of CAD (OR=1.43; 95% CI: 1.03–1.99; P=0.031); however, there were no significant associations in Western populations (OR=1.06; 95% CI: 0.96–1.18; P=0.240) or West Asians (OR=1.13; 95% CI: 0.75–1.70; P=0.565). When further analyzing the association between C1562T polymorphisms and myocardial infarction (MI, the most serious type of CAD), the risk of TT+TC genotype versus CC genotype for MI was significantly higher for the overall (OR=1.21; 95% CI: 1.04–1.40; P=0.012) and for East Asians (OR=1.58; 95% CI: 1.26–1.97; P=0.000) but not in Western populations (OR=1.12; 95% CI: 0.99–1.26; P=0.078).

Conclusions

Our meta-analysis suggested an obvious ethnic difference in the association between MMP-9 C1562T polymorphisms and CAD. MMP-9 C1562T polymorphism was significantly related to CAD in East Asians. However, no significant associations were observed in either West Asians or Western populations.     

动态血压监测评价武都力对老年高血压的降压疗效

目的：通过动态血压监测(ABPM)，对武都力治疗老年轻中度高血压的疗效进行评价．方法：48例老年高血压患者每天服用武都力一片，在治疗前后分别进行动态血压监测，观察24h的收缩压(SBP)、舒张压(DBP)及降压谷／峰比值(T／P)，并观察治疗前后对代谢的影响。结果：治疗前后24h及白昼、夜间SBP，DBP均有显著下降(P＜0．01)，T／P比值为71％．两组代谢均无明显变化．结论：武都力一次给药治疗老年性高血压，降压平稳且不影响代谢。     

Influence of serum adiponectin level and SNP +45 polymorphism of adiponectin gene on myocardial fibrosis

Adiponectin plays an important role in the development of hypertension, atherosclerosis, and cardiomyocyte hypertrophy, but very little was known about the influence of serum adiponectin or the adiponectin gene polymorphism on myocardial fibrosis. Our study investigates the influence of the SNP +45 polymorphism of the adiponectin gene and serum levels of adiponectin on myocardial fibrosis in patients with essential hypertension. A case-control study was conducted on 165 hypertensive patients and 126 normotensive healthy controls. The genotypes of adiponectin gene polymorphisms were detected by the polymerase chain reaction (PCR) method. Serum concentrations of procollagen were measured by a double antibody sandwich enzyme-linked immunosorbent assay (ELISA) in all subjects. The integrated backscatter score (IBS) was measured in the left ventricular myocardium using echocardiography. The serum levels of adiponectin in hypertensive patients were significantly lower than those in the normal control group ((2.69±1.0) μg/ml vs. (4.21±2.89) μg/ml, respectively, P<0.001). The serum levels of type-I procollagen carboxyl end peptide (PICP) and type-III procollagen ammonia cardinal extremity peptide (PIIINP) in the hypertension group were significantly higher than those in the control group. In the hypertension group, serum levels of adiponectin were significantly and negatively related to the average acoustic intensity and corrected acoustic intensity of the myocardium (r=0.46 and 0.61, respectively, P<0.05 for both). The serum levels of PICP and PIIINP were significantly different among the three genotypes of SNP +45 (P<0.01). Logistic regression analyses showed that sex and genotype (GG+GT) were the major risk factors of myocardial fibrosis in hypertensive patients (OR=5.343 and 3.278, respectively, P<0.05). These data suggest that lower levels of adiponectin and SNP +45 polymorphism of the adiponectin gene are likely to play an important role in myocardial fibrosis in hypertensive patients.     

CTLA4基因多态性与肺结核易感相关性研究进展

探讨CTLA-4基因多态性与肺结核易感相关性,应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析病例组和对照组中CTLA4基因功能性多态位点（＋49A/G、-1661A/G、-1772T/C）;研究结果显示CTLA-4能下调免疫应答,抑制T淋巴细胞活化;CLTA-4具有基因多态性,影响mRNA转录的稳定性;CTLA-4基因的功能和表达对由T细胞介导的肺结核免疫有重要影响;揭示了结核病易感相关性的分子基础,找到有效控制肺结核的方法。     

酶循环法定量检测血清同型半胱氨酸的技术性能评价

目的:评价酶循环法(ECM)定量检测血清同型半胱氨酸(Hcy)的技术性能。方法:参考NCCLS评价方案,评价ECM定量检测血清Hcy的准确度、精密度、线性范围和干扰因素。结果:ECM定量检测低、高水平定值质控血清Hcy的相对偏差分别为2.52%和4.28%;正常值和高值血清测定的批内变异系数(CV)和总CV分别为1.63%~1.58%和4.65%~3.88%;3.12~49.98 umol/L范围内测定的线性相关系数(r²)达到0.9971;胆红素(20 mg/dL)、乳糜(1000 mg/dL)和维生素C(10 mg/dL)对该检测方法无显著性干扰(P>0.05)。结论:酶循环法不仅实用性高,而且可靠性强,因此在各级医疗机构的检验科均可普及使用。     

InterIeukin-6 polymorphisms modify the risk of periodontitis: a systematic review and meta-analysis

Objective: To clarify the association of IL-6 polymorphisms and periodontitis, a meta-analysis of case-control studies and a systemic review were conducted. Material and methods: We performed a literature search using PubMed and Medline database to May 2009, with no restrictions. We also reviewed referebces from all retrieved articles. Six case-control studies involving 1093 periodontitis cases and 574 controls were selected for meta-analysis to assess the purported associations between IL-6 polymorphisms and the risk of periodontitis. IL-6 -174 G/C and -572 C/G polymorphisms were included in the present meta-analysis, and the association between IL-6 -6331 T/C polymorphism and the risk of periodontitis was adequately reviewed as well. Results and conclusion: The present meta-analysis indicates that the IL-6 -174 G allele could not modify the risk of chronic periodontitis, but increased the risk of aggressive periodontitis. And -572 C/G polymorphism is associated with the pathogenesis of periodontitis, including chronic periodontitis or aggressive periodontitis.     

Tei指数评价原发性高血压患者左室功能障碍的临床研究

目的：探讨Tei指数原发性高血压患者心脏功能的临床应用价值。方法：原发性高血压患者176例．按Ganau分类法将原发性高血压分为4型；正常构型（A组，46例）、向心性重构（B组，53例）、向心性肥厚（C组，40例）、离心性肥厚（D组，37例）；正常对照组35例。以常规超声心动图检查测量舒张末期室间隔、左室后壁厚度及左室内径（IVS、LVPW、LVDed），二尖瓣血流频谱图舒张早期与舒张晚期血流峰值比（E／A），左室射血分数（EF）及Tei指数，进行对比分析。结果：1.一般资料的比较：各组同年龄、性别差异均无显著性意义，C、D组病程有显著性差异，C、D组收缩压最高（P〈0．05），B、C、D组脉压最高（P〈0．05）；2．各组超声心动图结构参数比较：C组、D组LA最大（P〈0．05）；B组LVDS最小（P〈0．05），D组LVDS最大（P〈0．05）；C组IVS、LVPW最厚（P〈0．05）；B组、D组IVS、LVPW轻度增厚（P〈0．05）；C组RWT明显厚于其它各组（P〈0．01）；C组、D组LVMI质量显著增加（P〈0.01），但C组、D组之间无统计学意义；3．各组超声心动图功能参数比较：高血压各组的E／A值均减低（P〈0．05），EF只有D组与对照组比较有显著性意义；高血压各组Tei指数均较对照组增加，呈递增趋势，各组间有显著性意义。结论：Tei指数可以客观、真实的评价高血压患者不同左室构型的心功能情况，对于评估疾病的治疗效果和预后具有很高的临床应用价值。